An unusual Rhesus haplotype, —D—, in Iceland

Ólafsdóttir, Sigrídur; Jensson, O; Thórdarson, Gudmundur; Sigurðardóttir, Sólrún

doi:10.1016/0379-0738(83)90012-9

Cited by 10 publications

(6 citation statements)

References 5 publications

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“…One case of Rh D-has been studied previously a t the DNA level, and here two apparently complete genes, R H D and C/E were present (Colin et al 1991). We have now studied another D-gene which was found to be homozygous in one member of a consanguineous Icelandic family (Olafsdottir et al 1983), and have found that this Rh I)--phenotype is the result of deletion of all but the extreme 5' end of the R H C/E gene.…”

Section: Introductionmentioning

confidence: 78%

Lack of RH C/E expression in the Rhesus D– phenotype is the result of a gene deletion

Blunt

Steers

Daniels

et al. 1994

Annals of Human Genetics

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We have investigated the arrangement of genes in the rare Rh (Rhesus) partial null condition D--. Southern blot and PCR studies under conditions which distinguish the highly homologous RH D and RH C/E genes show that in an Icelandic family with the D-- haplotype at least 85% of the RH C/E gene is deleted. This finding is in contrast to one other published case of this phenotype, where intact RH D and C/E genes were found, and also to the full amorph Rhnull phenotype, where an intact RH C/E gene was found, accompanied by the deletion of the RH D gene typical of Rh D-negative individuals.

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Section: Introductionmentioning

confidence: 78%

Lack of RH C/E expression in the Rhesus D– phenotype is the result of a gene deletion

Blunt

Steers

Daniels

et al. 1994

Annals of Human Genetics

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“…The rare Rh gene complex D‐‐ ISBT number Rh17(004017), first was described by Race et al . in 1950, is characterized by the complete absence of C, c and E, e antigens and the elevated expression of D on the surface of red blood cells (RBCs) . D‐‐ phenotype people have been found in many populations with a high consanguinity rate of the parents.…”

Section: Introductionmentioning

confidence: 99%

First report of the rare RhCE‐depleted D‐‐phenotype in sixteen people of Iranian origin

2019

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Background and Objectives In transfusion medicine, it may be a challenge to acquire compatible blood for patients who have clinically important alloantibodies to high-prevalence antigens. The aim of this study was to study prevalence of rare D--phenotype in samples from patients and their relatives referred to the Immunohematology reference laboratory of the Iranian Blood Transfusion Organization and the detection and identification of the phenotype and associated antibodies, particularly in an antenatal setting. This is the first report of the cases evaluated by the IBTO and family studies of the D--proposita in Iran and possibly the first attempted comprehensive study in the current transfusion-related literatures. Materials and MethodsThis retrospective cross-sectional study was carried out on 6720 pregnant women and individuals with difficult positive pretransfusion testing referred for ABO/Rh(D) typing and antibody screening during a period of 8 years from 2008 to December 2016 in the Immunohematology Reference Laboratory of the Iranian Blood Transfusion Organization, Tehran, Iran.Results During 2008 to December 2016, 16 persons from ten families were detected to have rare D--phenotype. Anti-Rh17 and anti-c were identified in plasma of the 11 persons, including 10 females with a history of multiple unsuccessful pregnancy and the total number of 24 abortions and one male with history of blood transfusion vs. 5 individuals, including an unmarried single woman, 1 person with a history of first-time pregnancy and 3 persons with a history of multiple pregnancy, who showed no alloimmunization. Based on these collective findings, we interpreted these results as being confirmed as D--phenotype (0.23%).Conclusion Irrespective of Rh (D) group a serological antibody screening test is recommended to be required in a National prenatal testing guideline.Key words: Anti-Rh17 (anti-Hro), D--phenotype, haemolytic disease of the fetus and newborn.

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“…More than 100 variants have been described to date and the frequency of some alleles is extremely low 1 . The rare haplotype D‐‐, first identified in 1950, is characterized by the complete absence of C/c and E/e antigens and the elevated expression of D on the surface of red blood cells (RBCs) 2‐5 . The antibodies that develop after transfusion or pregnancy define the high‐incidence antigen Rh17 (Hr o ).…”

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confidence: 99%

Maternal ABO‐mismatched blood for intrauterine transfusion of severe hemolytic disease of the newborn due to anti‐Rh17

et al. 2004

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An unusual Rhesus haplotype, —D—, in Iceland

Cited by 10 publications

References 5 publications

Lack of RH C/E expression in the Rhesus D– phenotype is the result of a gene deletion

Lack of RH C/E expression in the Rhesus D– phenotype is the result of a gene deletion

First report of the rare RhCE‐depleted D‐‐phenotype in sixteen people of Iranian origin

Maternal ABO‐mismatched blood for intrauterine transfusion of severe hemolytic disease of the newborn due to anti‐Rh17

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